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    • Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling 

      Rice, Gillian I; del Toro Duany, Yoandris; Jenkinson, Emma M; Forte, Gabriella MA; Anderson, Beverley H; Ariaudo, Giada; Bader-Meunier, Brigitte; Baildam, Eileen M; Battini, Roberta; Beresford, Michael W; Casarano, Manuela; Chouchane, Mondher; Cimaz, Rolando; Collins, Abigail E; Cordeiro, Nuno JV; Dale, Russell C; Davidson, Joyce E; De Waele, Liesbeth; Desguerre, Isabelle; Faivre, Laurence; Fazzi, Elisa; Isidor, Bertrand; Lagae, Lieven; Latchman, Andrew R; Lebon, Pierre; Li, Chumei; Livingston, John H; Lourenço, Charles M; Mancardi, Maria Margherita; Masurel-Paulet, Alice; McInnes, Iain B; Menezes, Manoj P; Mignot, Cyril; O’Sullivan, James; Orcesi, Simona; Picco, Paolo P; Riva, Enrica; Robinson, Robert A; Rodriguez, Diana; Salvatici, Elisabetta; Scott, Christiaan; Szybowska, Marta; Tolmie, John L; Vanderver, Adeline; Vanhulle, Catherine; Vieira, Jose Pedro; Webb, Kate; Whitney, Robyn N; Williams, Simon G; Wolfe, Lynne A; Zuberi, Sameer M; Hur, Sun; Crow, Yanick J (2014)
      The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular ...